DFNB37
MCID: DFN197
MIFTS: 40

Deafness, Autosomal Recessive 37 (DFNB37)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Recessive 37

MalaCards integrated aliases for Deafness, Autosomal Recessive 37:

Name: Deafness, Autosomal Recessive 37 58 30 13 6 74
Dfnb37 58 12 76
Autosomal Recessive Nonsyndromic Deafness 37 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37 76
Congenital Neurosensory Deafness Autosomal Recessive 37 76
Deafness, Autosomal Recessive, Type 37 41
Deafness, Autosomal Recessive, 37 76
Autosomal Recessive Deafness 37 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of 3 consanguineous pakistani families (last curated august 2015)
eye and vestibular findings were found in some members of one family


HPO:

33
deafness, autosomal recessive 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110495
OMIM 58 607821
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1843028
UMLS 74 C1843028

Summaries for Deafness, Autosomal Recessive 37

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 37: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 37, also known as dfnb37, is related to deafness, autosomal dominant 1 and autosomal recessive nonsyndromic deafness. An important gene associated with Deafness, Autosomal Recessive 37 is MYO6 (Myosin VI), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include brain and eye, and related phenotypes are rod-cone dystrophy and congenital stationary night blindness

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has material basis in mutation in the MYO6 gene on chromosome 6q14.

Description from OMIM: 607821

Related Diseases for Deafness, Autosomal Recessive 37

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 37 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 10.3 MYO1A MYO3A
2 autosomal recessive nonsyndromic deafness 10.2 MYO15A TRIOBP
3 deafness, autosomal recessive 3 10.1 MYO15A MYO7A
4 deafness, autosomal recessive 85 10.0 MYO15A MYO7A
5 deafness, autosomal recessive 83 10.0 MYO15A MYO7A
6 usher syndrome, type ic 9.9 MYO15A MYO7A
7 deafness, autosomal dominant 11 9.9 MYO15A MYO6 MYO7A
8 autosomal dominant nonsyndromic deafness 9.9 MYH14 MYO6 MYO7A
9 deafness, autosomal dominant 6 9.9 MYH14 MYO7A
10 deafness, autosomal recessive 2 9.7 MYO15A MYO1A MYO6 MYO7A
11 auditory system disease 9.7 MYH9 MYO15A MYO7A
12 inner ear disease 9.6 MYH9 MYO7A
13 non-syndromic genetic deafness 9.6 MYH9 MYO15A MYO6 TRIOBP
14 sensorineural hearing loss 9.3 MYH14 MYH9 MYO15A MYO6 MYO7A
15 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.2 MYH9 MYO15A MYO3A MYO6 MYO7A TRIOBP
16 deafness, autosomal dominant 17 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
17 deafness, autosomal recessive 30 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
18 deafness, autosomal dominant 48 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
19 autosomal recessive nonsyndromic deafness 3 9.0 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
20 nonsyndromic deafness 8.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
21 deafness, autosomal dominant 22 8.0 DAB2 LMTK2 MYH14 MYH9 MYO15A MYO1A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 37:



Diseases related to Deafness, Autosomal Recessive 37

Symptoms & Phenotypes for Deafness, Autosomal Recessive 37

Human phenotypes related to Deafness, Autosomal Recessive 37:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 occasional (7.5%) HP:0000510
2 congenital stationary night blindness 33 occasional (7.5%) HP:0007642
3 vestibular dysfunction 33 very rare (1%) HP:0001751
4 bilateral sensorineural hearing impairment 33 HP:0008619

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
hearing loss, sensorineural, bilateral (severe to profound)
vestibular dysfunction (in 2 patients)

Head And Neck Eyes:
retinitis pigmentosa (in 1 patient)
congenital stationary night blindness (in 1 patient)

Clinical features from OMIM:

607821

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased CYP1A1 activity after TCDD stimulation GR00155-A 8.96 LMTK2 MYO3A
2 Decreased Salmonella enterica Typhimurium effector injection GR00133-A-4 8.62 MYO3A TOM1

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 37:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 MYH9 MYO15A MYO1A MYO3A MYO6 MYO7A
2 nervous system MP:0003631 9.23 LMTK2 MYH14 MYH9 MYO15A MYO3A MYO6

Drugs & Therapeutics for Deafness, Autosomal Recessive 37

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 37

Genetic Tests for Deafness, Autosomal Recessive 37

Genetic tests related to Deafness, Autosomal Recessive 37:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 37 30 MYO6

Anatomical Context for Deafness, Autosomal Recessive 37

MalaCards organs/tissues related to Deafness, Autosomal Recessive 37:

42
Brain, Eye

Publications for Deafness, Autosomal Recessive 37

Articles related to Deafness, Autosomal Recessive 37:

# Title Authors Year
1
Mutations of MYO6 are associated with recessive deafness, DFNB37. ( 12687499 )
2003

Variations for Deafness, Autosomal Recessive 37

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 37:

76
# Symbol AA change Variation ID SNP ID
1 MYO6 p.Glu216Val VAR_016209 rs121912559

ClinVar genetic disease variations for Deafness, Autosomal Recessive 37:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO6 NM_004999.3(MYO6): c.3496C> T (p.Arg1166Ter) single nucleotide variant Pathogenic rs121912558 GRCh37 Chromosome 6, 76623836: 76623836
2 MYO6 NM_004999.3(MYO6): c.3496C> T (p.Arg1166Ter) single nucleotide variant Pathogenic rs121912558 GRCh38 Chromosome 6, 75914119: 75914119
3 MYO6 NM_004999.4(MYO6): c.36dup (p.Thr13Tyrfs) duplication Pathogenic GRCh37 Chromosome 6, 76527300: 76527300
4 MYO6 NM_004999.4(MYO6): c.36dup (p.Thr13Tyrfs) duplication Pathogenic GRCh38 Chromosome 6, 75817583: 75817583
5 MYO6 NM_004999.3(MYO6): c.647A> T (p.Glu216Val) single nucleotide variant Uncertain significance rs121912559 GRCh37 Chromosome 6, 76550395: 76550395
6 MYO6 NM_004999.3(MYO6): c.647A> T (p.Glu216Val) single nucleotide variant Uncertain significance rs121912559 GRCh38 Chromosome 6, 75840678: 75840678
7 MYO6 NM_004999.3(MYO6): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs727503326 GRCh37 Chromosome 6, 76554623: 76554623
8 MYO6 NM_004999.3(MYO6): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs727503326 GRCh38 Chromosome 6, 75844906: 75844906

Expression for Deafness, Autosomal Recessive 37

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 37.

Pathways for Deafness, Autosomal Recessive 37

Pathways related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 LMTK2 MYH14 MYH9 MYO15A MYO1A MYO3A
2
Show member pathways
13.14 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3
Show member pathways
13.04 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
4
Show member pathways
12.84 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
5
Show member pathways
12.7 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
6
Show member pathways
12.69 LMTK2 MYH14 MYH9 MYO15A MYO1A MYO3A
7 12.28 DAB2 MYH14 MYH9 MYO6
8
Show member pathways
12.08 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9
Show member pathways
11.97 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
10 11.04 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
11 10.31 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6

GO Terms for Deafness, Autosomal Recessive 37

Cellular components related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.89 MYH9 MYO15A MYO3A MYO7A TRIOBP
2 cytoplasm GO:0005737 9.85 DAB2 MYH14 MYH9 MYO15A MYO1A MYO3A
3 lysosomal membrane GO:0005765 9.7 DAB2 MYO6 MYO7A
4 cell cortex GO:0005938 9.65 MYH9 MYO6 MYO7A
5 microvillus GO:0005902 9.58 MYO1A MYO6 MYO7A
6 clathrin-coated pit GO:0005905 9.55 DAB2 MYO6
7 stress fiber GO:0001725 9.54 MYH14 MYH9
8 brush border GO:0005903 9.54 MYH14 MYH9 MYO1A
9 clathrin-coated vesicle membrane GO:0030665 9.51 DAB2 MYO6
10 actomyosin GO:0042641 9.46 MYH14 MYH9
11 myosin II complex GO:0016460 9.43 MYH14 MYH9
12 stereocilium GO:0032420 9.43 MYO15A MYO3A MYO7A
13 myosin II filament GO:0097513 9.32 MYH14 MYH9
14 myosin complex GO:0016459 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
15 filamentous actin GO:0031941 9.13 MYO1A MYO3A MYO6

Biological processes related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.67 DAB2 MYH9 MYO6 TOM1
2 endocytosis GO:0006897 9.5 DAB2 MYO6 TOM1
3 actomyosin structure organization GO:0031032 9.26 MYH14 MYH9
4 actin filament-based movement GO:0030048 9.26 MYH14 MYH9 MYO6 MYO7A
5 sensory perception of sound GO:0007605 9.17 MYH14 MYO15A MYO1A MYO3A MYO6 MYO7A
6 auditory receptor cell stereocilium organization GO:0060088 9.16 MYO7A TRIOBP

Molecular functions related to Deafness, Autosomal Recessive 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.8 MYH14 MYH9 MYO1A MYO6 MYO7A TRIOBP
2 actin binding GO:0003779 9.8 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
3 nucleotide binding GO:0000166 9.76 MYH14 MYH9 MYO3A MYO7A
4 ADP binding GO:0043531 9.71 MYH9 MYO3A MYO6 MYO7A
5 microfilament motor activity GO:0000146 9.67 MYH14 MYH9 MYO3A MYO7A
6 calmodulin binding GO:0005516 9.5 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
7 actin-dependent ATPase activity GO:0030898 9.46 MYH14 MYH9 MYO3A MYO7A
8 motor activity GO:0003774 9.17 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6
9 ATP binding GO:0005524 10.03 LMTK2 MYH14 MYH9 MYO15A MYO1A MYO3A

Sources for Deafness, Autosomal Recessive 37

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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